Hyperammonemic Encephalopathy Caused by the c.386+5G>A Mutation in OTC Gene in a Young Adult Woman

Noncirrhotic hyperammonemia as a cause of acute confusion remains diagnostic challenge. Deficiency of ornithine transcarbamylase (OTC) is the urea cycle disorder, inborn errors caused by a defect of the enzymes in the urea cycle, leading to an accumulation of ammonia mainly in newborn. There were very few cases, in which OTC deficiency result in hyperammonemia in adulthood. Herein, we report a young adult woman of hyperammonemic encephalopathy with OTC deficiency, diagnosed by high blood ammonia, glutamine and low plasma levels of citrulline. Next generation sequencing showed the c.386+5G>A mutation of the OTC gene.

Prevalence and Public Awareness of Sleep Apnea Syndrome in South Korea

Objectives@#In South Korea, a significant number of patients with obstructive sleep apnea have benefited from the insured continuous positive pressure for sleep apnea as of 2018. However, there is limited information on public awareness of sleep apnea syndrome in the country. A nationwide survey was conducted to evaluate the current status of public awareness on the diagnosis and treatment of sleep apnea. @*Methods@#We conducted an online survey using structured questionnaires on symptoms and knowledge of diagnosis and treatment modalities for sleep apnea. A total of 4,000 participants aged 21 to 69 were proportionally allocated according to the residential area, gender, and age group. @*Results@#The STOP questionnaire, a screening tool for sleep apnea, revealed that 1,044 (21.6%) scored ≥2 points, 327 (8.1%) scored ≥3 points, and 64 (1.6%) scored 4 points. However, only 19 of the 1,044 patients were being treated for sleep apnea, and 13 had been using continuous positive airway pressure. For the diagnosis of sleep apnea, 1,318 participants (33.0%) responded that polysomnography was necessary. For sleep apnea treatment, 1,954 (48.9%) participants responded that lifestyle modification was the treatment of choice, while 1,036 (25.9%) chose continuous positive pressure. @*Conclusions@#Although one-fifth were at high risk for sleep apnea, this disorder is still underestimated. Therefore, publicity and support are needed to improve public awareness of sleep apnea.

Intracranial Arterial Calcificationes Can Reflect Cerebral Atherosclerosis Burden

BACKGROUND AND PURPOSE: We investigated whether the intracranial arterial calcification status reflects the overall cerebral atherosclerosis burden. METHODS: Patients with acute cerebral infarction who were admitted to a single university hospital stroke center and underwent brain computed tomography angiography (CTA) between May 2011 and December 2015 were included. We reviewed their demographic, clinical, and imaging data. Cerebral artery calcification was assessed from the cavernous portion of both internal carotid arteries, and patients were categorized into three groups according to the calcification status. The cerebral atherosclerosis score was calculated as the sum of the degree of stenosis of the major intracranial and extracranial arteries on brain CTA. RESULTS: In total, 1,161 patients were included (age=67±13 years, mean±standard deviation), of which 517 were female. Intracranial arterial calcification and atherosclerosis were detected in 921 patients. The cerebral atherosclerosis score tended to increase with the calcification status (no calcification=2.0±3.0, mild=3.8±3.8, severe=6.5±4.8; p < 0.001 in analysis of variance followed by the Bonferroni test). Multivariable logistic regression analysis including age, sex, vascular risk factors, body mass index, estimated glomerular filtration rate, high-sensitivity C-reactive protein, and calcification status showed that intracranial calcification was independently associated with an advanced cerebral atherosclerosis burden in a dose-dependent manner (compared to no calcification: odds ratio=2.0 and 95% confidence interval=1.1–3.4 for mild calcification, and odds ratio=4.7 and 95% confidence interval=2.7–8.3 for severe calcification). CONCLUSIONS: This study found that the calcification status of the cavernous portion of an internal carotid artery can reflect the overall cerebral atherosclerosis burden.

Effect of Obstructive Sleep Apnea on the Functional Outcome of Acute Ischemic Stroke

OBJECTIVES@#This study investigated the prevalence and clinical characteristics of obstructive sleep apnea (OSA) in acute ischemic stroke patients and the effect of OSA on prognosis of acute ischemic stroke.@*METHODS@#Forty-nine acute ischemic stroke patients with portable polysomnography (PSG) examination from 2017 to 2018 were included. Demographic data, laboratory findings, and PSG variables were collected. The severity of initial neurologic deficit was assessed using National Institutes of Health Stroke Scale (NIHSS) and functional outcome was evaluated using the modified Rankin Scale (mRS). An unfavorable prognosis three months after the onset of acute ischemic stroke was defined as an mRS ≥3. We assessed the association between with OSA severity and functional outcome using multivariate logistic regression.@*RESULTS@#Of 49 patients with acute ischemic stroke, 43 (87.8%) had OSA [apnea-hypopnea index (AHI)≥5/h]. Fourteen (28.6%) patients had mild OSA, 16 (32.7%) had moderate while 13 (26.5%) were having severe OSA. Univariate logistic regression showed that OSA related variables [AHI and oxygen desaturation index (ODI)] were associated with poor clinical outcome three months after stroke (mRS ≥3). Multivariate logistic regression analysis adjusted for age and initial NIHSS demonstrated that increase in AHI (adjusted odds ratio, 1.079; 95% confidence interval, 1.007–1.156, p=0.031) and ODI (adjusted odds ratio, 1.095; 95% confidence interval, 1.020–1.174, p=0.011) was associated with poor functional outcome three months after stroke.@*CONCLUSIONS@#OSA in patients with acute ischemic stroke is associated with poor functional outcomes.

Cheyne-Stokes Respiration and the Outcome of Acute Ischemic Stroke

OBJECTIVES@#Cheyne-Stokes respiration (CSR) is frequently observed in acute stroke patients. In case of heart failure, CSR has been reported to be a poor prognostic factor. However, whether CSR has negative predictive value in stroke is not established yet. We aimed to investigate the relation between the presence of CSR and the outcome of acute stroke.@*METHODS@#We investigated the patients who were admitted with acute ischemic stroke and received sleep apnea test. We collected data on demographics, risk factors, etiologic subtypes and the parameters associated with respiratory events in sleep apnea test. Primary outcome was the occurrence of early neurologic deterioration (END) within 3 weeks. Secondary outcome included the modified Rankin Scale (mRS) score at 3 months after stroke. We assessed the risk of poor outcome associated with CSR using multivariate logistic regression.@*RESULTS@#Among 182 patients, 35 (19.2%) showed CSR in sleep apnea test. The presence of CSR in acute stroke was not associated with END, but associated with increased risk of 3 or higher mRS score at 3 months (odds ratio, 3.02; 95% confidence interval, 1.39 to 6.55) in univariate analysis. The association was still significant in large artery atherosclerosis group in stratified analysis. However, this association was insignificant in multivariate analysis which revealed that poor outcome at 3 months was associated with obstructive sleep apnea, as well as territory of internal carotid artery or basilar artery, initial National Institutes of Health Stroke Scale, and history of previous stroke.@*CONCLUSIONS@#The presence of CSR was associated with poor functional outcome after acute stroke. However, large scaled study is needed to confirm the role of CSR as an independent prognostic factor of stroke.

Reversible Cerebral Vasoconstriction Syndrome Diagnosed by Visual Symptoms and Changes in Headache Patterns in a Patient with Chronic Migraine

No abstract available.

Artificial Neural Network: Understanding the Basic Concepts without Mathematics

Machine learning is where a machine (i.e., computer) determines for itself how input data is processed and predicts outcomes when provided with new data. An artificial neural network is a machine learning algorithm based on the concept of a human neuron. The purpose of this review is to explain the fundamental concepts of artificial neural networks.

Changes in Central Auditory Processing in Patients with Mesial Temporal Lobe Epilepsy after Anterior Temporal Lobectomy with Amygdalohippocampectomy

BACKGROUND AND PURPOSE: This study aimed to determine the effects of anterior temporal lobectomy with amygdalohippocampectomy (ATL-AH) on central auditory processing (CAP) in patients with mesial temporal lobe epilepsy with hippocampal sclerosis (mTLE-HS), and to identify factors that may contribute to the postoperative worsening of CAP. METHODS: Frequency-pattern, duration-pattern, and dichotic tests were performed before and after epilepsy surgery in 22 patients with normal hearing according to pure-tone audiometry. RESULTS: No significant difference in CAP scores was detected between pre- and postoperative tests, but there was a strong association between surgery in the language-dominant temporal lobe and postoperative worsening in the non-dominant-side dichotic test (p<0.05). The probability of a decreased performance in a non-dominant-side dichotic test after surgery was 7.5-fold greater in patients who underwent surgery on the dominant temporal lobe compared with the nondominant temporal lobe. No significant association of postoperative worsening in CAP with the verbal, nonverbal intelligence quotient, or right- or left-side lobectomy was noted. CONCLUSIONS: These results suggest that ATL-AH on the dominant side in patients with mTLE-HS worsens the CAP ability in the non-dominant-side dichotic test.

Seizure Frequencies and Number of Anti-epileptic Drugs as Risk Factors for Sudden Unexpected Death in Epilepsy

The purpose of this study was to investigate the association between clinical variables and sudden unexpected death in epilepsy (SUDEP) and identify risk factors for SUDEP. SUDEP is one of the most frequent causes of death in patients with epilepsy. Previous studies have reported possible risk factors associated with SUDEP, but there need to be elucidated yet. The cases were 26 patients with SUDEP and three control patients were included for each case, matched for age, sex, and date of initial clinical visit. All demographic and clinical characteristics, including age, sex, disease duration, classification of epilepsy, age at seizure onset, kind and number of antiepileptic drugs, were compared between cases and controls. Seizure frequency was higher in SUDEP cases than in controls (P=0.035). Univariate analysis using conditional logistic regression showed that higher seizure frequency (odds ratio [OR]=3.1, P=0.021) and the number of antiepileptic drugs (AEDs) (OR=2.0, P=0.009) were significantly associated with SUDEP. Only the number of AEDs remained significant in multivariate analysis (OR=1.8, P=0.026). Frequent seizures and multi-drug therapy were associated with SUDEP. This may suggest that the severity of epilepsy is associated with SUDEP, regardless of the type of AED used.

Idiopathic REM Sleep Behavior Disorder in Young Adults and Quantitative Analysis of Polysomnography

Rapid eye movement sleep behavior disorder (RBD) is a sleep disorder characterized by loss of muscle atonia during REM sleep associated with dream enactment, which usually start at the age of older than 50. RBD in elders are known to be developing symptoms of neurodegenerative disorders in the course of disease. However, the pathophysiology and prognosis of "early-onset" idiopathic RBD is unclear. Several existing standard value about REM sleep without atonia (RSWA) of RBD patients was established with "late-onset" RBD for those diagnosed at age 50 and greater, RSWA metrics in "early-onset" RBD patients diagnosed prior to age 50 years have not been previously described. Therefore, we report here two patients who were diagnosed as "early-onset" idiopathic RBD, and performed quantitative RSWA scoring. We suggested that "early-onset" idiopathic RBD has different etiologies the various characteristics of RSWA than adults with RBD.

Argyria Accompanied by Normal Pressure Hydrocephalus

A 54-year-old man ingesting silver solution over 4 years presented with cognitive impairment and progressive gait disturbance. He had diffuse gray pigmentation on his face and fingertips, suggesting argyria. Brain magnetic resonance imaging (MRI) revealed hydrocephalus and high concentration of silver ion is in blood. This is the first case occuring hydrocephalus associated with the neurotoxicity of silver.